Revel Score:
ENST00000380252
0.604
ENST00000380259
0.604
ENST00000336906 (MANE Select)
0.604
ENST00000380247
0.604
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00003231 (AMR)
Exomes Max Group AF
0.00004358 (AMR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5254408T>G , CM000673.2:g.5254408T>G | GRCh38 |
| NC_000011.9:g.5275638T>G , CM000673.1:g.5275638T>G | GRCh37 |
| NC_000011.8:g.5232214T>G | NCBI36 |
| NG_000007.3:g.43208A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000336906.6:c.199A>C MANE Select | ENSP00000338082.4:p.Lys67Gln | |
| ENST00000380252.6:c.34A>C | ENSP00000369602.2:p.Lys12Gln | |
| ENST00000380259.7:c.1745A>C | ENSP00000369609.3:n.1745A>C | |
| ENST00000642908.1:c.199A>C | ENSP00000495346.1:p.Lys67Gln | |
| ENST00000647543.1:c.199A>C | ENSP00000496470.1:p.Lys67Gln | |
| ENST00000336906.4:c.199A>C | ENSP00000338082.4:p.Lys67Gln | |
| ENST00000380252.5:c.169A>C | ENSP00000369602.1:p.Lys57Gln | |
| ENST00000380259.6:c.199A>C | ENSP00000369609.2:p.Lys67Gln | |
| ENST00000444587.1:c.*68A>C | ENSP00000488218.1:n.*68A>C | |
| ENST00000620888.4:c.199A>C | ENSP00000479637.1:p.Lys67Gln | |
| ENST00000624109.1:c.156T>G | ENSP00000485458.1:p.Leu52= | |
| NM_000184.2:c.199A>C | NP_000175.1:p.Lys67Gln | |
| NM_000184.3:c.199A>C MANE Select | NP_000175.1:p.Lys67Gln |